Seeking Help

Seeking Help

Avatar of Olivia

Seeking Help

May 14, 2010 in Uncategorized

I am looking for information on diet and supplements for an ADULT FEMALE w/PKU. I don't know much about PKU and really want to help my sister in law in providing her with tools that will let her be the best she can be under the circumstances. She was not treated for PKU at birth and is now 47 years old. She cannot read, write, or understand the exchange of money. However she is bright and participates in sports, bowling, swimming, track, golf, she works at a local grocery store as a grocery bagger and goes to a school for mentally handicaped. I beleive she can be and do more if she were to receive a special diet and lower the Phe levels, but her family beleives that it is too late for that to do any good. I'm fighting a battle that it seems no one wants me to win. At this time, my sister in law is drinking about a half gallon of milk each day, eating chocolates, red meat at every meal along with bread, rice, potatoes and cheese. She is active, plays softball, and bowls on a regular weekly basis so her family dosn't see any reason for her to be on a special diet. She has been put on Risperdal 1mg, once a day to help keep her calm, she gets angry and upset easily lately. I really think she would get more help by changing her diet instead of taking Risperdal. However I am not the guardian or parent, so I need all the information I can get in order to present it to the family. If anyone knows of a book, web site, or any information on this subject, please let me know. So far all the information I find is for people that were diagnosed with PKU at birth and have been on diets and supplements. I need information for someone who slipped through the crack, someone who has PKU and who, as far as I know, has never been on medication or any diets to lower her Phe levels. I have a small window of op here, her mother is in the hospital and I am now the care giver. I would like to try a diet lower in protien to see the affect if any on my sister in law. I just don't know where to start. I will keep trying. I plan on asking my Dr. for help as well, maybe he can refer me to some information somewhere. I don't plan to stop until I get the information I seek. It may not be my child, but I feel every person deserves to be the best they can be and I want to see her soar.

6 Reviews of Seeking Help

  1. Registered: Sep 8, 2009

    Posts: 0



    I dont ave very much advice to give out, but i do think there are advantages to starting the low protein diet and supplements…. it may not change your sister in law dramatically..but maybe in behavioural problems, concentration, moods things like that culd all change, am not sure as am not a doctor. I think the best advice to give you is to contact her local doctor to transfer her to metabolic clinic where professional staff could possibly give you the best outcome to this xx

    Good luck xx

    nicole x

  2. Registered: Feb 1, 2010

    Posts: 0

    Tucson, Arizona

    Hello there. I would recommend checking out the “adults with PKU” tab on the website. There are several options for the low protein formula that your sister in law should probably start on if she goes onto a low protein diet so that her body gets all of the essential amino acids except the phenylaline. It sounds like you’ve done your research! It is true that individuals who are affected by untreated PKU do tend to show improvements even into their 50’s if they go on the PKU diet for the first time. I know my PKU specialist used to show his medical students a video that told the story of one such woman. I was unable to view the video in my quick search right now, but I see that there’s a video at the website that might be the same video, or a similar one. There’s also suggested guidelines for untreated PKU adults that you might find helpful. You may need to get her in to see the local PKU specialist/dietitian in order to get the drink formula supplement to go along with the diet and other support, so I’d recommend getting in touch with your doctor and getting a referral for your sister in law to the specialist. You may also have luck at–under “living with PKU” you might be able to find the closest clinic with a team that specializes in PKU.

    I think this is a great thing you are wanting to do for your sister in law. Good luck in your endeavors!

  3. Registered: Jun 27, 2009

    Posts: 0

    , New York

    You are a wonderful sister-in-law and I hope you are able to help her reach her true potential. The low protein diet at any point will improve her life. It will not reverse the brain damage that has been done, but has been shown to improve day to day function in people who were late diagnosed. Here is a video link on the National PKU News website about a woman who was late diagnosed before and after diet:

    Look at the clinic finder above and see where a local metabolic clinic is located. A regular doctor will not have much information. In addition to a low protein diet, a special medical drink needs to be taken a few times a day to provide your sister in law with the protein her body needs (It has been specially formulated so that there is no phe in it). There are low protein recipes on my website and there are a few low protein food companies like Cambrooke Foods (also a wonderful resource for recipes) and Taste Connections.

    There is a medication out called Kuvan (the manufacturer runs this site) that helps many people lower their blood phe levels (but still requires a low protein diet for most people). There is also something called a Large Nuetral Amino Acid (SHS North America produces it) that helps block some of the blood phe from crossing over the blood-brain barrrier which is where the neurological damage occurs.

    Good luck with everything. I will keep your sister-in-law in my thoughts and prayers.


  4. Registered: May 14, 2010

    Posts: 0

    Arcadia, Florida

    I want to thank you all for the information. I have never blogged before and was a bit afraid of doing so. Determined to find out any information, I disided to give it a go and I’m glad I did. I have found a clinic, it’s about 75 miles from us, but I will contact someone there to get more informaton. I appreciate the concern and the generiousity shown by the people on’s blog. I hope to learn more as I continue on my search for education concerning PKU. Again, you have been very helpful, thanks Oj.

  5. Registered: Nov 3, 2009

    Posts: 0

    , Massachusetts

    I do not have much more info to share except that is a GREAT resource… they are the national organization and through them you can find help for health care as well as community support groups in your area.

    Getting her into a clinic will be a huge first step! Congratulations to you for being so proactive and motivated to help your sister-in-law. A diet will definitely help, maybe not in a day or a week, but over time it should definitely show improvements in your sister-in-laws quality of life.

  6. Registered: Sep 20, 2007

    Posts: 0

    Woodbridge, New Jersey

    I wish you luck in helping your sister-in-law. I am in my early 50s, late diagnosed. I am in better shape than your sister in law, but I still need help. Please keep me posted on your progress. Maybe it will help me.

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